Canonical Allele Identifier: CA567278161

Gene: TFAP2B

Linked Data

• dbSNP Id: rs1170268915
• gnomAD v2: 6-50786806-AGCTTTTTTTAACTTTTAGAAAAGCT-A
• gnomAD v3: 6-50819093-AGCTTTTTTTAACTTTTAGAAAAGCT-A
• gnomAD v4: 6-50819093-AGCTTTTTTTAACTTTTAGAAAAGCT-A
• MyVariant Identifiers: chr6:g.50786807_50786831del (hg19) ; chr6:g.50819094_50819118del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.50819095_50819119del , CM000668.2:g.50819095_50819119del	GRCh38
NC_000006.11:g.50786808_50786832del , CM000668.1:g.50786808_50786832del	GRCh37
NC_000006.10:g.50894767_50894791del	NCBI36
NG_008438.1:g.5370_5394del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393655.4:c.81+123_81+147del MANE Select	ENSP00000377265.2:n.81+123_81+147del
ENST00000344788.7:c.48+123_48+147del	ENSP00000342252.3:n.48+123_48+147del
ENST00000393655.3:c.81+123_81+147del	ENSP00000377265.2:n.81+123_81+147del
NM_003221.3:c.81+123_81+147del	NP_003212.2:n.81+123_81+147del
XM_006715176.2:c.81+123_81+147del	XP_006715239.1:n.81+123_81+147del
XM_011514834.1:c.81+123_81+147del	XP_011513136.1:n.81+123_81+147del
XM_011514835.1:c.81+123_81+147del	XP_011513137.1:n.81+123_81+147del
XM_011514836.1:c.81+123_81+147del	XP_011513138.1:n.81+123_81+147del
XM_011514837.1:c.81+123_81+147del	XP_011513139.1:n.81+123_81+147del
XM_011514837.2:c.81+123_81+147del	XP_011513139.1:n.81+123_81+147del
XM_017011233.1:c.173+123_173+147del	XP_016866722.1:n.173+123_173+147del
XM_017011234.1:c.137+123_137+147del	XP_016866723.1:n.137+123_137+147del
XM_017011235.2:c.81+123_81+147del	XP_016866724.1:n.81+123_81+147del
NM_003221.4:c.81+123_81+147del MANE Select	NP_003212.2:n.81+123_81+147del